Product
Help
Pricing
About
Jobs
Log in
Get started
Institution
Add to collection
Sheffield Children's Hospital
Homepage:
sheffieldchildrens.nhs.uk
Parent institution:
Sheffield Children's NHS Foundation Trust
Related institutions:
Sheffield Hallam University,
University of Sheffield
ROR:
05mshxb09
OpenAlex ID:
I4210164839
COVID-19: consider cytokine storm syndromes and immunosuppression
2020
·
Puja Mehta
, Daniel F McAuley
, et al.
·
The Lancet
·
9,660
PDF
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
2002
·
Ian P.M. Tomlinson
, N. Afrina Alam
, et al.
·
Nature Genetics
·
1,637
Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins
2000
·
Alexander J. MacGregor
, Harold Snieder
, et al.
·
Arthritis & Rheumatism
·
1,178
Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
2004
·
Anna L. Gloyn
, Ewan R. Pearson
, et al.
·
New England Journal of Medicine
·
1,144
The UK10K project identifies rare variants in health and disease
2015
·
Writing group
, Klaudia Walter
, et al.
·
Nature
·
1,038
PDF
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
1998
·
Sandra S. Strautnieks
, Laura N. Bull
, et al.
·
Nature Genetics
·
996
Mapping the human genetic architecture of COVID-19
2021
·
COVID-19 Host Genetics Initiative
, COVID-19 Host Genetics InitiativeLeadership
, et al.
·
Nature
·
983
Diagnosis and phenotypic classification of Wilson disease 1
2003
·
Peter Ferenci
, Karel Caca
, et al.
·
Liver International
·
928
Molecular remission of infant B-ALL after infusion of universal TALEN gene-edited CAR T cells
2017
·
Waseem Qasim
, Hong Zhan
, et al.
·
Science Translational Medicine
·
901
PDF
Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations
2005
·
P.J. Pollard
, J.J. Brière
, et al.
·
Human Molecular Genetics
·
866
PDF
Chemokine receptors and their role in inflammation and infectious diseases
2000
·
Craig Murdoch
, Adam Finn
·
Blood
·
839
What the pulmonary specialist should know about the new inhalation therapies
2011
·
B.L. Laube
, H.M. Janssens
, et al.
·
European Respiratory Journal
·
806
PDF
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
1998
·
Mehul T. Dattani
, Juan-Pedro Martinez-Barbera
, et al.
·
Nature Genetics
·
793
The effect of ADHD on the life of an individual, their family, and community from preschool to adult life
2005
·
V A Harpin
·
Archives of Disease in Childhood
·
787
PDF
Epidermal Barrier Dysfunction in Atopic Dermatitis
2009
·
Michael J. Cork
, Simon G. Danby
, et al.
·
Journal of Investigative Dermatology
·
765
Pediatric Gastroesophageal Reflux Clinical Practice Guidelines: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN)
2009
·
Yvan Vandenplas
, Colin D Rudolph
, et al.
·
Journal of Pediatric Gastroenterology and Nutrition
·
742
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
2019
·
Jenny Lord
, Dominic J McMullan
, et al.
·
The Lancet
·
709
PDF
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
2006
·
Yanick J Crow
, Andrea Leitch
, et al.
·
Nature Genetics
·
675
A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial
2007
·
Rob Pieters
, Martin Schrappe
, et al.
·
The Lancet
·
652
Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia
1990
·
L. Lennard
, J.S. Lilleyman
, et al.
·
The Lancet
·
651
Adaptation to culture of human embryonic stem cells and oncogenesis in vivo
2007
·
Duncan E C Baker
, Neil J Harrison
, et al.
·
Nature Biotechnology
·
636
Evidence for 28 genetic disorders discovered by combining healthcare and research data
2020
·
Joanna Kaplanis
, Kaitlin E. Samocha
, et al.
·
Nature
·
609
PDF
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
2012
·
Michael P. Whyte
, Cheryl R. Greenberg
, et al.
·
New England Journal of Medicine
·
568
PDF
A HAEMATOLOGIST
1989
·
J.S. Lilleyman
·
The Lancet
·
565
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
2006
·
Philippa B Mills
, Eduard Struys
, et al.
·
Nature Medicine
·
547
Show more works
View as search
Works count:
6,090
Citation count:
356,300
Year
Topic
Type
